Hajdu-Cheney Syndrome Clinical Trials and Treatments

Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant skeletal dysplasia caused by mutations in CTNNB1 gene affecting beta-catenin and Wnt signaling pathway regulation. The condition is characterized by progressive acroosteolysis (loss of terminal phalanges, particularly affecting fingers and toes), which begins in childhood and progressively worsens through adolescence and adulthood, eventually leading to significant digital shortening. Affected individuals develop severe arthritis affecting multiple joints including knees, hips, shoulders, and spine, causing progressive pain and functional limitation.

The most common symptoms of Hajdu-Cheney Syndrome include Acroosteolysis and shortening of fingers and toes, Progressive arthritis and joint destruction, Dental abnormalities and delayed eruption, Distinctive facial features, Bone abnormalities on imaging, among others. Fewer than 200 cases reported; likely 1 in 1,000,000. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Hajdu-Cheney Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Clinical trials are investigating Wnt pathway modulators and other targeted therapies to address the fundamental CTNNB1 mutation defect and slow progression of acroosteolysis and arthritis. Orthopedic and rheumatology management addresses progressive joint disease with anti-inflammatory therapies and joint protection strategies.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Hajdu-Cheney Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Hajdu-Cheney Syndrome is caused by variants in the NOTCH2 gene. Caused by truncating variants in the last exon of NOTCH2, often de novo; the CTNNB1 alias is incorrect.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. Fewer than 200 cases reported; likely 1 in 1,000,000. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Hajdu-Cheney Syndrome looks at the NOTCH2 gene. Caused by truncating variants in the last exon of NOTCH2, often de novo; the CTNNB1 alias is incorrect.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Hajdu-Cheney Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Hajdu-Cheney Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.